Incidental Mutation 'R3853:Shoc1'
ID 276000
Institutional Source Beutler Lab
Gene Symbol Shoc1
Ensembl Gene ENSMUSG00000038598
Gene Name shortage in chiasmata 1
Synonyms Mzip2, Gm426, AI481877, LOC242489
MMRRC Submission 040900-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R3853 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 59043753-59138983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59047390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 1410 (N1410D)
Ref Sequence ENSEMBL: ENSMUSP00000103171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107547]
AlphaFold A2ALV5
Predicted Effect possibly damaging
Transcript: ENSMUST00000107547
AA Change: N1410D

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: N1410D

DomainStartEndE-ValueType
low complexity region 246 264 N/A INTRINSIC
low complexity region 543 560 N/A INTRINSIC
low complexity region 908 917 N/A INTRINSIC
low complexity region 1189 1201 N/A INTRINSIC
Meta Mutation Damage Score 0.0773 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 94.4%
Validation Efficiency 96% (47/49)
Allele List at MGI

All alleles(6) : Targeted, other(1) Gene trapped(5)

Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,055,976 (GRCm39) H316L probably damaging Het
Cadps A G 14: 12,509,090 (GRCm38) probably benign Het
Cluh A G 11: 74,547,279 (GRCm39) D44G probably benign Het
Copb1 A G 7: 113,822,551 (GRCm39) V726A probably damaging Het
Dsg4 T C 18: 20,582,291 (GRCm39) V79A probably benign Het
Exo1 A T 1: 175,720,554 (GRCm39) I291F probably benign Het
Eya4 C T 10: 22,992,574 (GRCm39) A460T probably damaging Het
Gjd3 G T 11: 102,690,952 (GRCm39) D350E probably benign Het
Hcar2 T C 5: 124,002,475 (GRCm39) M343V probably benign Het
Ifna15 T C 4: 88,476,046 (GRCm39) Y146C probably damaging Het
Lce3e C T 3: 92,875,139 (GRCm39) Q32* probably null Het
Llgl1 T C 11: 60,598,075 (GRCm39) L373P probably damaging Het
Mark2 A G 19: 7,254,655 (GRCm39) C642R probably damaging Het
Mbd3l2 A G 9: 18,356,092 (GRCm39) Q139R probably benign Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Nynrin T A 14: 56,101,562 (GRCm39) N410K probably benign Het
Or10g7 A T 9: 39,905,450 (GRCm39) T115S probably damaging Het
Or4a71 A T 2: 89,357,917 (GRCm39) M279K possibly damaging Het
Or5b112 A G 19: 13,319,862 (GRCm39) T247A possibly damaging Het
Or7a38 T A 10: 78,752,781 (GRCm39) Y36N probably damaging Het
Or8b1 G T 9: 38,400,247 (GRCm39) R307S probably benign Het
Padi3 T C 4: 140,518,580 (GRCm39) probably benign Het
Prkce A G 17: 86,476,277 (GRCm39) D86G probably damaging Het
Pwwp3b C T X: 138,137,403 (GRCm39) probably null Het
Rad21 T G 15: 51,835,712 (GRCm39) I234L probably benign Het
Scn4a A T 11: 106,210,932 (GRCm39) M1695K possibly damaging Het
Sdccag8 T C 1: 176,681,361 (GRCm39) S325P probably damaging Het
Sebox G A 11: 78,394,975 (GRCm39) G106R probably benign Het
Serpinb9 A G 13: 33,199,503 (GRCm39) E266G possibly damaging Het
Snx14 T C 9: 88,289,372 (GRCm39) probably benign Het
Tmc6 A T 11: 117,663,884 (GRCm39) L474* probably null Het
Tmem132c T C 5: 127,436,933 (GRCm39) Y141H probably benign Het
Trap1 G A 16: 3,872,686 (GRCm39) R328C possibly damaging Het
Trim36 C A 18: 46,305,439 (GRCm39) probably benign Het
Trmt2a A T 16: 18,069,055 (GRCm39) Y299F possibly damaging Het
Trrap A G 5: 144,728,975 (GRCm39) K630E probably damaging Het
Tsnaxip1 A T 8: 106,567,333 (GRCm39) probably benign Het
Ttc6 G T 12: 57,775,335 (GRCm39) C1677F possibly damaging Het
Ugt2a3 A T 5: 87,485,018 (GRCm39) V2D Het
Usp9x A G X: 12,964,822 (GRCm39) D77G probably benign Het
Wfs1 C A 5: 37,125,968 (GRCm39) V308L probably benign Het
Zan A C 5: 137,472,326 (GRCm39) L140R probably damaging Het
Zc3h3 A T 15: 75,709,346 (GRCm39) S508T probably benign Het
Zswim3 A G 2: 164,662,777 (GRCm39) Y419C possibly damaging Het
Other mutations in Shoc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Shoc1 APN 4 59,086,961 (GRCm39) missense probably benign
IGL00574:Shoc1 APN 4 59,094,201 (GRCm39) missense possibly damaging 0.66
IGL01333:Shoc1 APN 4 59,047,870 (GRCm39) missense possibly damaging 0.66
IGL02282:Shoc1 APN 4 59,111,114 (GRCm39) missense unknown
IGL02418:Shoc1 APN 4 59,049,075 (GRCm39) splice site probably benign
IGL02621:Shoc1 APN 4 59,062,668 (GRCm39) missense probably damaging 0.97
IGL03028:Shoc1 APN 4 59,094,274 (GRCm39) missense possibly damaging 0.66
IGL03112:Shoc1 APN 4 59,049,355 (GRCm39) missense probably benign 0.27
IGL03137:Shoc1 APN 4 59,094,162 (GRCm39) missense probably benign 0.27
IGL03220:Shoc1 APN 4 59,082,378 (GRCm39) nonsense probably null
IGL03386:Shoc1 APN 4 59,069,315 (GRCm39) missense possibly damaging 0.66
1mM(1):Shoc1 UTSW 4 59,048,024 (GRCm39) nonsense probably null
R0071:Shoc1 UTSW 4 59,059,643 (GRCm39) missense possibly damaging 0.92
R0071:Shoc1 UTSW 4 59,059,643 (GRCm39) missense possibly damaging 0.92
R0194:Shoc1 UTSW 4 59,066,534 (GRCm39) splice site probably benign
R0366:Shoc1 UTSW 4 59,099,410 (GRCm39) missense probably benign 0.09
R0680:Shoc1 UTSW 4 59,043,967 (GRCm39) missense probably benign 0.00
R1419:Shoc1 UTSW 4 59,064,457 (GRCm39) missense possibly damaging 0.66
R1599:Shoc1 UTSW 4 59,072,349 (GRCm39) missense possibly damaging 0.82
R1699:Shoc1 UTSW 4 59,113,926 (GRCm39) missense unknown
R1799:Shoc1 UTSW 4 59,099,383 (GRCm39) missense possibly damaging 0.92
R1832:Shoc1 UTSW 4 59,066,441 (GRCm39) missense probably benign 0.05
R1870:Shoc1 UTSW 4 59,054,142 (GRCm39) splice site probably benign
R2076:Shoc1 UTSW 4 59,082,410 (GRCm39) missense possibly damaging 0.46
R2170:Shoc1 UTSW 4 59,069,215 (GRCm39) missense possibly damaging 0.92
R2870:Shoc1 UTSW 4 59,093,850 (GRCm39) missense probably damaging 0.97
R2870:Shoc1 UTSW 4 59,093,850 (GRCm39) missense probably damaging 0.97
R2871:Shoc1 UTSW 4 59,093,850 (GRCm39) missense probably damaging 0.97
R2871:Shoc1 UTSW 4 59,093,850 (GRCm39) missense probably damaging 0.97
R2872:Shoc1 UTSW 4 59,093,850 (GRCm39) missense probably damaging 0.97
R2872:Shoc1 UTSW 4 59,093,850 (GRCm39) missense probably damaging 0.97
R2873:Shoc1 UTSW 4 59,093,850 (GRCm39) missense probably damaging 0.97
R3026:Shoc1 UTSW 4 59,062,656 (GRCm39) missense possibly damaging 0.83
R3079:Shoc1 UTSW 4 59,047,848 (GRCm39) missense possibly damaging 0.82
R3914:Shoc1 UTSW 4 59,094,201 (GRCm39) missense possibly damaging 0.66
R4006:Shoc1 UTSW 4 59,076,500 (GRCm39) missense possibly damaging 0.53
R4364:Shoc1 UTSW 4 59,082,294 (GRCm39) missense possibly damaging 0.92
R4387:Shoc1 UTSW 4 59,060,915 (GRCm39) missense possibly damaging 0.66
R4454:Shoc1 UTSW 4 59,092,383 (GRCm39) missense possibly damaging 0.90
R4811:Shoc1 UTSW 4 59,082,404 (GRCm39) missense probably benign 0.19
R4853:Shoc1 UTSW 4 59,072,345 (GRCm39) missense possibly damaging 0.66
R4899:Shoc1 UTSW 4 59,062,640 (GRCm39) missense probably damaging 0.97
R5090:Shoc1 UTSW 4 59,111,108 (GRCm39) missense unknown
R5169:Shoc1 UTSW 4 59,059,618 (GRCm39) missense possibly damaging 0.66
R5297:Shoc1 UTSW 4 59,047,543 (GRCm39) missense probably benign
R5400:Shoc1 UTSW 4 59,082,432 (GRCm39) missense possibly damaging 0.83
R5419:Shoc1 UTSW 4 59,049,017 (GRCm39) missense probably benign 0.04
R5668:Shoc1 UTSW 4 59,047,399 (GRCm39) missense probably benign
R5770:Shoc1 UTSW 4 59,092,466 (GRCm39) missense probably benign 0.00
R5783:Shoc1 UTSW 4 59,076,239 (GRCm39) nonsense probably null
R5929:Shoc1 UTSW 4 59,092,497 (GRCm39) nonsense probably null
R6209:Shoc1 UTSW 4 59,043,869 (GRCm39) makesense probably null
R6230:Shoc1 UTSW 4 59,099,345 (GRCm39) missense probably benign
R6233:Shoc1 UTSW 4 59,076,245 (GRCm39) missense possibly damaging 0.92
R6351:Shoc1 UTSW 4 59,069,317 (GRCm39) missense probably benign 0.00
R6785:Shoc1 UTSW 4 59,049,066 (GRCm39) missense probably benign 0.01
R6884:Shoc1 UTSW 4 59,059,652 (GRCm39) missense possibly damaging 0.83
R7355:Shoc1 UTSW 4 59,076,155 (GRCm39) missense probably benign
R7423:Shoc1 UTSW 4 59,076,264 (GRCm39) missense probably benign 0.27
R7484:Shoc1 UTSW 4 59,062,286 (GRCm39) missense probably damaging 0.97
R7560:Shoc1 UTSW 4 59,076,140 (GRCm39) missense possibly damaging 0.66
R7999:Shoc1 UTSW 4 59,094,162 (GRCm39) missense probably benign 0.27
R8198:Shoc1 UTSW 4 59,065,174 (GRCm39) missense probably benign 0.10
R8979:Shoc1 UTSW 4 59,047,276 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- CCATTCATTGAAGTTTGAGTATAGAGC -3'
(R):5'- TACAACAAATGGTACTCTTGGAAAG -3'

Sequencing Primer
(F):5'- GGGTTCTCTGCAAGAGCTATTAACC -3'
(R):5'- GGTACTCTTGGAAAGATGACTTCTCC -3'
Posted On 2015-04-06